NCT05040256已完成不适用
Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Number of Neurologic impairment
研究概览
简要总结
CTLA4 and LRBA deficiencies are rare genetic disorders, recently described, and associated with multiple clinical features. It ranges from recurrent infections, auto-immunity, and organ infiltration with lymphocytes. Neurologic syndroms are described in up to 30% of patients, yet they are poorly defined to date. Early recognition of a specific pattern can be important, given that there is a targeted therapy in this situation.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Number of Neurologic impairment
时间窗: 1 day
Neurologic signs and symptoms (headaches, seizures...), cerebral MRI features, lumbar puncture, histopathology
次要结局
- Presence of reccurent infections(1 day)
研究者
研究点 (1)
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